ClinVar Miner

Variants in gene PYGL with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050 0.00044
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036 0.00041
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341 0.00029
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) rs755485474 0.00006
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_002863.5(PYGL):c.1519-15C>A rs372886463 0.00004
NM_002863.5(PYGL):c.1768+10C>T rs780893472
NM_002863.5(PYGL):c.1970-7C>G
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)

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